Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses

Terrazas, Karla; Dixon, Jill; Trainor, Paul A.; Dixon, Michael J.

doi:10.1002/wdev.263

Cited by 35 publications

(43 citation statements)

References 91 publications

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“…As discussed above, recent studies have revealed that mutations in genes encoding components essential for cell metabolism, such as splicing and ribosome biogenesis, lead to congenital anomalies in craniofacial and limb structure (spliceosomopathies and ribosomopathies,). Developmental etiologies of this kind of craniofacial defects in humans have begun to be unveiled.…”

Section: Discussionmentioning

confidence: 99%

Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse

Yamada

Takechi

Yokoyama

et al. 2020

Developmental Dynamics

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Background: Splicing factor 3B subunit 4 (SF3B4) is a causative gene of an acrofacial dysostosis, Nager syndrome. Although in vitro analyses of SF3B4 have proposed multiple noncanonical functions unrelated to splicing, less information is available based on in vivo studies using model animals. Results:We performed expression and functional analyses of Sf3b4 in mice. The mouse Sf3b4 transcripts were found from two-cell stage, and were ubiquitously present during embryogenesis with high expression levels in several tissues such as forming craniofacial bones and brain. In contrast, expression of a pseudogene-like sequence of mouse Sf3b4 (Sf3b4_ps) found by in silico survey was not detected up to embryonic day 10. We generated a Sf3b4 knockout mouse using CRISPR-Cas9 system. The homozygous mutant mouse of Sf3b4 was embryonic lethal. The heterozygous mutant of Sf3b4 mouse (Sf3b4 +/− ) exhibited smaller body size compared to the wild-type from postnatal to adult period, as well as homeotic posteriorization of the vertebral morphology and flattened calvaria. The flattened calvaria appears to be attributable to mild microcephaly due to a lower cell proliferation rate in the forebrain. Conclusions:Our study suggests that Sf3b4 controls anterior-posterior patterning of the axial skeleton and guarantees cell proliferation for forebrain development in mice. K E Y W O R D Shomeotic posteriorization, microcephaly, Nager syndrome, splicing factor Takahiko Yamada and Masaki Takechi contributed equally to this study.

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Section: Discussionmentioning

confidence: 99%

Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse

Yamada

Takechi

Yokoyama

et al. 2020

Developmental Dynamics

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“…3 | TREACHER COLLINS SYNDROME Treacher Collins syndrome (TCS) presents with a wide spectrum of craniofacial defects, often including CA (Andrade et al, 2005;Horiuchi et al, 2004;Trainor, 2010). Mutations in TCOF1, POLR1C and POLR1D are responsible for causing TCS, and all three genes play roles in ribosomal RNA production and subsequently ribosome biogenesis (Terrazas, Dixon, Trainor, & Dixon, 2017;Valdez, Henning, So, Dixon, & Dixon, 2004). The fact that other similar disorders caused by gene mutations that also affect ribosome biogenesis, such as Diamond-Blackfan anemia (Handler, Alabi, & Miller, 2009) or Acrofacial dysotosis (Weaver et al, 2015) can also present with CA suggests that the process of ribosomal biogenesis is critical in the progenitor cells of craniofacial tissues for connecting the nasal airway to the nasopharynx.…”

Section: Neurocristopathymentioning

confidence: 99%

Choanal atresia and stenosis: Development and diseases of the nasal cavity

Kurosaka

2018

WIREs Developmental Biology

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Proper craniofacial development in vertebrates depends on growth and fusion of the facial processes during embryogenesis. Failure of any step in this process could lead to craniofacial anomalies such as facial clefting, which has been well studied with regard to its molecular etiology and cellular pathogenesis. Nasal cavity invagination is also a critical event in proper craniofacial development, and is required for the formation of a functional nasal cavity and airway. The nasal cavity must connect the nasopharynx with the primitive choanae to complete an airway from the nostril to the nasopharynx. In contrast to orofacial clefts, defects in nasal cavity and airway formation, such as choanal atresia (CA), in which the connection between the nasal airway and nasopharynx is physically blocked, have largely been understudied. This is also true for a narrowed connection between the nasal cavity and the nasopharynx, which is known as choanal stenosis (CS). CA occurs in approximately 1 in 5,000 live births, and can present in isolation but typically arises as part of a syndrome. Despite the fact that CA and CS usually require immediate intervention, and substantially affect the quality of life of affected individuals, the etiology and pathogenesis of CA and CS have remained elusive. In this review I focus on the process of nasal cavity development with respect to forming a functional airway and discuss the cellular behavior and molecular networks governing this process. Additionally, the etiology of human CA is discussed using examples of disorders which involve CA or CS. This article is categorized under: Signaling Pathways > Cell Fate Signaling Comparative Development and Evolution > Model Systems Birth Defects > Craniofacial and Nervous System Anomalies

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“…TCS is characterized by midfacial hypoplasia, micrognathia with or without cleft palate, underdeveloped external ears and inner ear anomalies with hearing loss, coloboma, and downward slanting eyes (Terrazas, Dixon, Trainor, & Dixon, ). TCS is caused predominantly by mutations in TCOF1 , with mutations in POLR1D and POLR1C associated with some TCOF1 mutation‐negative cases (Terrazas et al, ). TCOF1 is a nucleolar phosphoprotein implicated in Pol I transcription of rRNA (Larsen et al, ).…”

Section: Developmental Processes Linking Spliceosomopathies and Ribosmentioning

confidence: 99%

Developmental processes regulate craniofacial variation in disease and evolution

Merkuri

Fish

2018

Genesis

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Variation in development mediates phenotypic differences observed in evolution and disease. Although the mechanisms underlying phenotypic variation are still largely unknown, recent research suggests that variation in developmental processes may play a key role. Developmental processes mediate genotype-phenotype relationships and consequently play an important role regulating phenotypes. In this review, we provide an example of how shared and interacting developmental processes may explain convergence of phenotypes in spliceosomopathies and ribosomopathies. These data also suggest a shared pathway to disease treatment. We then discuss three major mechanisms that contribute to variation in developmental processes: genetic background (gene-gene interactions), gene-environment interactions, and developmental stochasticity. Finally, we comment on evolutionary alterations to developmental processes, and the evolution of disease buffering mechanisms.

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Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses

Cited by 35 publications

References 91 publications

Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse

Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse

Choanal atresia and stenosis: Development and diseases of the nasal cavity

Developmental processes regulate craniofacial variation in disease and evolution

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